Canonical Allele Identifier: CA357615772

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964505A>C (hg19) ; chr4:g.88043353A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043353A>C , CM000666.2:g.88043353A>C	GRCh38
NC_000004.11:g.88964505A>C , CM000666.1:g.88964505A>C	GRCh37
NC_000004.10:g.89183529A>C	NCBI36
NG_008604.1:g.40686A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.1215A>C MANE Select	ENSP00000237596.2:p.Gln405His
ENST00000237596.6:c.1215A>C	ENSP00000237596.2:p.Gln405His
ENST00000506367.1:n.662A>C
ENST00000508588.5:c.-303A>C	ENSP00000427131.1:n.-303A>C
NM_000297.3:c.1215A>C	NP_000288.1:p.Gln405His
XM_011532028.1:c.1095-3289A>C	XP_011530330.1:n.1095-3289A>C
XM_011532029.1:c.495A>C	XP_011530331.1:p.Gln165His
XM_011532030.1:c.375A>C	XP_011530332.1:p.Gln125His
XR_244632.2:n.1310A>C
NR_156488.1:n.1302A>C
XM_011532028.2:c.1095-3289A>C	XP_011530330.1:n.1095-3289A>C
XM_011532030.2:c.375A>C	XP_011530332.1:p.Gln125His
NM_000297.4:c.1215A>C MANE Select	NP_000288.1:p.Gln405His
NR_156488.2:n.1314A>C